[CIS PIDD] [cis-pidd] G6PC3

[CIS-PIDD]

Hi Maite,

Can I ask...  does a hemizygous mutation in G6PC3 explain this or is
there some other underlying diagnosis here?   We follow a lot of chronic
neutropenia patients and we do not have any on prophylactic antibiotics
(even some of our bad ELANE patients).  What kind of venous
malformations are present?

Dave

David Buchbinder, MD
CHOC Children's Hospital 



>>> "CIS-PIDD" <cis-pidd at lists.clinimmsoc.org> 10/04/15 12:14 PM >>>
  Dear all 
 Would appreciate comments from those who follow patients with G6PC3 in
reference to use of prophylactic antibiotics and long term outcomes of
venous malformations
  
 I recently started seeing a girl who has a novel hemizygous mutation (
c.911dupC;pQ305fs) in G6PC3
  
 She had a hx of recurrent OM and skin abscesses. Neutropenia was only
noted during an admission for Strep Pneumo sepsis, necrotizing
pneumonia, respiratory failure necessitating ECMO resulting in a 5 mo
hospital admission. Note her  admission  CBC was not neutropenic.
Neutropenia was noted as she got better.  She is extremely small and has
the venous malformations described in literature  
  
 Immune studies now only significant for nonprotective titers to HIB and
4/14 protective pneumococcal serotypes (don’t know serotype that caused
the invasive disease). I gave her HIB and Prevnar13 and she has
excellent protective titers  now ( HIB>200mcg/ml and Pneumococcal 13/14
serotypes, most >15mcg/ml)
  
 She is not neutropenic on G-CSF. Literature suggest these children
respond nicely to G-CSF. She is only 4 years and has mild bronchiectasis
in the right middle lobe and inferior aspect of the right upper lobe
along with small cystic changes  in both lower lobes. 
  
 Thank you
 Maite
  
 Maite de la Morena, MD
 Professor of Pediatrics and Internal Medicine 
 Division of Allergy and Immunology
  
 
 
      UT  Southwestern 
     Medical Center
        The future of medicine, today.
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